(Q43705958)

26 November 2017

title

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome (English)

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26 November 2017

Nowaczyk MJ

1

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26 November 2017

Nakamura LM

2

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26 November 2017

Eng B

3

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26 November 2017

Porter FD

4

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26 November 2017

Waye JS

5

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26 November 2017

publication date

1 September 2001

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American Journal of Medical Genetics Part A

26 November 2017

published in

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26 November 2017

volume

102

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26 November 2017

issue

4

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26 November 2017

page(s)

383-386

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Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

26 November 2017

cites work

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Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

21 January 2018

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

21 January 2018

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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

21 January 2018

1 reference

The Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

Molecular cloning and expression of the human delta7-sterol reductase

21 January 2018

1 reference

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

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RSH (so-called Smith-Lemli-Opitz) syndrome

21 January 2018

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Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

21 January 2018

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Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

21 January 2018

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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

21 January 2018

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Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1441

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26 November 2017

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